Alpha-tropomyosin mutations in inherited cardiomyopathies

scientific article published on August 2013

Alpha-tropomyosin mutations in inherited cardiomyopathies is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1051566328
P356DOI10.1007/S10974-013-9358-5
P698PubMed publication ID24005378

P2093author name stringPaul Robinson
Charles Redwood
P2860cites workHypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosisQ24290682
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathyQ24290985
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotypeQ24304085
Dilated cardiomyopathy mutant tropomyosin mice develop cardiac dysfunction with significantly decreased fractional shortening and myofilament calcium sensitivityQ24308001
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathyQ24314590
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomereQ24316399
Structural basis for tropomyosin overlap in thin (actin) filaments and the generation of a molecular swivel by troponin-TQ27650626
Structure of the Rigor Actin-Tropomyosin-Myosin ComplexQ27670842
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategyQ28198707
Vertebrate tropomyosin: distribution, properties and functionQ28216589
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathyQ28236892
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotypeQ28236991
What is the role of tropomyosin in the regulation of muscle contraction?Q28243862
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutationQ28258622
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathyQ28275501
Shared genetic causes of cardiac hypertrophy in children and adultsQ28276100
Gene mutations in apical hypertrophic cardiomyopathyQ28280136
Mutations in sarcomere protein genes in left ventricular noncompactionQ28281620
Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutationsQ28287468
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivityQ28287994
Tropomyosin de-phosphorylation in the heart: what are the consequences?Q28293301
Regulation of contraction in striated muscleQ28610114
Regulation of cardiac hypertrophy by intracellular signalling pathwaysQ29615166
Targeted amino-terminal acetylation of recombinant proteins in E. coliQ33784412
Hypertrophic cardiomyopathy: a systematic reviewQ34117625
Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β.Q34162142
Contractile dysfunction in hypertrophic cardiomyopathy: elucidating primary defects of mutant contractile proteins by gene transferQ34175630
Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosinsQ64378861
Direct, convergent hypersensitivity of calcium-activated force generation produced by hypertrophic cardiomyopathy mutant alpha-tropomyosins in adult cardiac myocytesQ64381152
Sequence repeats in α-tropomyosinQ67341520
Phosphorylation of tropomyosin in live frog muscleQ67561795
Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathyQ70792037
Cardiomyopathic tropomyosin mutations that increase thin filament Ca2+ sensitivity and tropomyosin N-domain flexibilityQ73756846
A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in miceQ74626036
Mechanism of acute mechanical benefit from VDD pacing in hypertrophied heart: similarity of responses in hypertrophic cardiomyopathy and hypertensive heart diseaseQ77066258
Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunctionQ77986125
A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhoodQ78493649
Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathyQ82658704
The effect of the Asp175Asn and Glu180Gly TPM1 mutations on actin-myosin interaction during the ATPase cycleQ82879726
Hypertrophic cardiomyopathy-causing Asp175asn and Glu180gly Tpm1 mutations shift tropomyosin strands further towards the open position during the ATPase cycleQ83536107
The effect of the dilated cardiomyopathy-causing mutation Glu54Lys of alpha-tropomyosin on actin-myosin interactions during the ATPase cycleQ84330956
The effect of the dilated cardiomyopathy-causing Glu40Lys TPM1 mutation on actin-myosin interactions during the ATPase cycleQ84528298
Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden deathQ85237807
A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin bindingQ85419617
Effects of two familial hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on the thermal unfolding of actin-bound tropomyosinQ34188103
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathyQ34399188
DCM-related tropomyosin mutants E40K/E54K over-inhibit the actomyosin interaction and lead to a decrease in the number of cycling cross-bridges.Q34450885
Enhanced active cross-bridges during diastole: molecular pathogenesis of tropomyosin's HCM mutationsQ34568089
Tropomyosin position on F-actin revealed by EM reconstruction and computational chemistry.Q34568719
Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletionQ35113389
The flexibility of two tropomyosin mutants, D175N and E180G, that cause hypertrophic cardiomyopathyQ36143822
Tropomyosin dephosphorylation results in compensated cardiac hypertrophyQ36492849
Genetic mutations and mechanisms in dilated cardiomyopathyQ36497170
Use of thin filament reconstituted muscle fibres to probe the mechanism of force generation.Q36565792
Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin geneQ36833594
Genetic testing for dilated cardiomyopathy in clinical practiceQ36882310
Decreasing tropomyosin phosphorylation rescues tropomyosin-induced familial hypertrophic cardiomyopathyQ37213860
Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?Q37834124
How do mutations in contractile proteins cause the primary familial cardiomyopathies?Q37855688
Functional alpha-tropomyosin produced in Escherichia coli. A dipeptide extension can substitute the amino-terminal acetyl groupQ38309278
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practiceQ39793333
Thin filament-mediated regulation of cardiac contractionQ41117735
Myofilament Ca sensitization increases cytosolic Ca binding affinity, alters intracellular Ca homeostasis, and causes pause-dependent Ca-triggered arrhythmia.Q41896456
Ca2+ buffering in the heart: Ca2+ binding to and activation of cardiac myofibrils.Q41918986
Long-range effects of familial hypertrophic cardiomyopathy mutations E180G and D175N on the properties of tropomyosinQ42173536
Familial hypertrophic cardiomyopathy related E180G mutation increases flexibility of human cardiac α-tropomyosinQ42727154
α-Tropomyosin with a D175N or E180G mutation in only one chain differs from tropomyosin with mutations in both chainsQ43092360
Cardiac dysfunction in hypertrophic cardiomyopathy mutant tropomyosin mice is transgene-dependent, hypertrophy-independent, and improved by beta-blockadeQ44095817
Ca2+-induced rolling of tropomyosin in muscle thin filaments: the alpha- and beta-band hypothesis revisitedQ44728813
alpha-Tropomyosin mutations Asp(175)Asn and Glu(180)Gly affect cardiac function in transgenic rats in different waysQ44805483
Physiological significance of troponin T binding domains in striated muscle tropomyosinQ44932362
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathyQ46557269
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filamentsQ46954266
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathyQ47759938
Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathyQ48020405
Functional consequences of hypertrophic and dilated cardiomyopathy-causing mutations in alpha-tropomyosin.Q51389950
Dilated cardiomyopathy mutations in alpha-tropomyosin inhibit its movement during the ATPase cycle.Q51816671
The 14-fold periodicity in alpha-tropomyosin and the interaction with actin.Q52851499
Novel mutation in the alpha-tropomyosin gene and transition from hypertrophic to hypocontractile dilated cardiomyopathy.Q52968696
The effect of mutations in alpha-tropomyosin (E40K and E54K) that cause familial dilated cardiomyopathy on the regulatory mechanism of cardiac muscle thin filaments.Q54445230
A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy.Q54470458
Effects of two hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on Ca2+ regulation of thin filament motility.Q54561766
Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function.Q54567660
Inherited CardiomyopathiesQ56384883
Effect of Hypertrophic Cardiomyopathy Mutations in Human Cardiac Muscle α -tropomyosin (Asp175Asn and Glu180Gly) on the Regulatory Properties of Human Cardiac Troponin Determined by in vitro Motility AssayQ57279235
A Mutant Tropomyosin That Causes Hypertrophic Cardiomyopathy Is Expressed In Vivo and Associated With an Increased Calcium SensitivityQ57279249
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experienceQ57316356
The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction CardiomyopathyQ57364826
P433issue3-4
P304page(s)285-294
P577publication date2013-08-01
P1433published inJournal of Muscle Research & Cell MotilityQ13739445
P1476titleAlpha-tropomyosin mutations in inherited cardiomyopathies
P478volume34

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cites work (P2860)
Q90237180A Stochastic Multiscale Model of Cardiac Thin Filament Activation Using Brownian-Langevin Dynamics
Q30839458Aberrant developmental titin splicing and dysregulated sarcomere length in Thymosin β4 knockout mice
Q34031117An atomic model of the tropomyosin cable on F-actin
Q28066435Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype
Q38853345Early sensitization of myofilaments to Ca2+ prevents genetically linked dilated cardiomyopathy in mice
Q64963237Effects of cardiomyopathy-linked mutations K15N and R21H in tropomyosin on thin-filament regulation and pointed-end dynamics.
Q27334908Energy landscapes reveal the myopathic effects of tropomyosin mutations
Q93137582Evaluation of cardiac hypertrophy in the setting of sudden cardiac death
Q47254208Functional role of the core gap in the middle part of tropomyosin
Q64280641Functional significance of HCM mutants of tropomyosin, V95A and D175N, studied with motility assays
Q44288700Introducing a special edition of the Journal of Muscle Research and Cell Motility on tropomyosin: form and function
Q51664761Investigating the effects of tropomyosin mutations on its flexibility and interactions with filamentous actin using molecular dynamics simulation.
Q35172648Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies.
Q47705176Molecular mechanisms and structural features of cardiomyopathy-causing troponin T mutants in the tropomyosin overlap region
Q38184400Myofilament dysfunction as an emerging mechanism of volume overload heart failure
Q37367932Predicting Effects of Tropomyosin Mutations on Cardiac Muscle Contraction through Myofilament Modeling
Q91314949Sarcomere gene variants act as a genetic trigger underlying the development of left ventricular noncompaction
Q34608346Structural and protein interaction effects of hypertrophic and dilated cardiomyopathic mutations in alpha-tropomyosin.
Q47378513Structural destabilization of tropomyosin induced by the cardiomyopathy-linked mutation R21H.
Q38205172The myosin-activated thin filament regulatory state, M⁻-open: a link to hypertrophic cardiomyopathy (HCM).
Q91597359Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1.
Q33717809Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects
Q39094600Tropomyosin Structure, Function, and Interactions: A Dynamic Regulator
Q42001691Tropomyosin movement on F-actin during muscle activation explained by energy landscapes
Q36275252Tropomyosin-1 acts as a potential tumor suppressor in human oral squamous cell carcinoma

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